MURAYAMA KEI 村山圭

Researcher Number	50316741
Other IDs
Affiliation (Current)	2026: 順天堂大学, 大学院医学研究科, 教授
Affiliation (based on the past Project Information) *help	2023 – 2025: 順天堂大学, 大学院医学研究科, 教授
Review Section/Research Field	Except Principal Investigator Medium-sized Section 52:General internal medicine and related fields
Keywords	Except Principal Investigator シングルセル / ヘテロプラスミー率 / 心筋症 / ミトコンドリアDNA / オミックス解析 / ゲノム解析 / マルチオミックス解析 / メタボローム解析 / ヘテロプラスミー / シングルセル解析 / 多階層オミックス統合解析 / ミトコンドリア病

Establishment of multi-layered omics analysis for mitochondrial disease patients
- Principal Investigator
  
  岡崎康司
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  Juntendo University

All 2025 2024 2023

All Journal Article

[Journal Article] Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis2025
- Author(s)
  Nakamura Kohta、Yatsuka Yukiko、Naito Sachie、Hasegawa Akira、Kasukawa Takeya、Kondo Atsushi、Kishita Yoshihito、Sugiyama Yohei、Onuki Takanori、Ebihara Tomohiro、Tsuruoka Tomoko、Fushimi Takuya、Ohtake Akira、Murayama Kei、Imai‐Okazaki Atsuko、Okazaki Yasushi
- Journal Title
  
  Molecular Genetics & Genomic Medicine
  
  Volume: 13 Issue: 1
- DOI
  10.1002/mgg3.70048
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23H00424, KAKENHI-PROJECT-22K15950, KAKENHI-PROJECT-23K07236, KAKENHI-PROJECT-23K07488, KAKENHI-PROJECT-24K18898
[Journal Article] Deoxyguanosine kinase deficiency: natural history and liver transplant outcome2024
- Author(s)
  Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Bari I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S et al.
- Journal Title
  
  Brain Communications
  
  Volume: 6 Issue: 3
- DOI
  10.1093/braincomms/fcae160
- Data Source
  KAKENHI-PROJECT-23H00424
[Journal Article] Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy2024
- Author(s)
  Ozaki K, Yatsuka Y, Oyazato Y, Nishiyama A, Nitta KR, Kishita Y, Fushimi T, Shimura M, Noma S, Sugiyama Y, Tagami M, Fukunaga M, Kinoshita H, Hirata T, Suda W, Murakawa Y, Carninci P, Ohtake A, Murayama K, Okazaki Y.
- Journal Title
  
  npj Genomic Medicine
  
  Volume: 9 Issue: 1 Pages: 48-48
- DOI
  10.1038/s41525-024-00429-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23H00424, KAKENHI-PROJECT-22K15950, KAKENHI-PROJECT-23K07236, KAKENHI-PROJECT-24K18898
[Journal Article] Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY12024
- Author(s)
  Fujii Yuko、Matsumura Hideki、Murayama Kei、Okazaki Yasushi、Ashida Akira
- Journal Title
  
  CEN Case Reports
  
  Volume: 14 Issue: 2 Pages: 291-296
- DOI
  10.1007/s13730-024-00948-1
- Data Source
  KAKENHI-PROJECT-23H00424
[Journal Article] Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease2024
- Author(s)
  Sung Andrew Y.、Guerra Rachel M.、Steenberge Laura H.、Alston Charlotte L.、Murayama Kei、Okazaki Yasushi、Shimura Masaru、Prokisch Holger、Ghezzi Daniele、Torraco Alessandra、Carrozzo Rosalba、Rotig Agnes、Taylor Robert W.、Keck James L.、Pagliarini David J.
- Journal Title
  
  Nature Metabolism
  
  Volume: 6 Issue: 6 Pages: 1128-1142
- DOI
  10.1038/s42255-024-01039-2
- Data Source
  KAKENHI-PROJECT-23H00424
[Journal Article] Variants in MICOS10 Identified by Whole Genome Sequencing and <scp>RNA</scp> Sequencing in a New Type of Hepatocerebral Mitochondrial <scp>DNA</scp> Depletion Syndrome2024
- Author(s)
  Kishita Yoshihito、Sugiura Ayumu、Omichi Nanako、Shimura Masaru、Yatsuka Yukiko、Nakamura Kohta、Tanaka Toju、Kubota Mitsuru、Murayama Kei、Ohtake Akira、Okazaki Yasushi
- Journal Title
  
  Liver International
  
  Volume: 45 Issue: 1
- DOI
  10.1111/liv.16148
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23H00424, KAKENHI-PROJECT-22K15950, KAKENHI-PROJECT-23K07236, KAKENHI-PROJECT-24K18898
[Journal Article] Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in ECHS1-related Leigh syndrome2024
- Author(s)
  Murofushi Yuka、Ochiai Kenta、Yasukochi Madoka、Sano Kentaro、Ichimoto Keiko、Murayama Kei、Okazaki Yasushi、Omata Taku、Takanashi Jun-ichi
- Journal Title
  
  Radiology Case Reports
  
  Volume: 19 Issue: 12 Pages: 6292-6296
- DOI
  10.1016/j.radcr.2024.08.164
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23H00424, KAKENHI-PROJECT-23K07192, KAKENHI-PROJECT-24K10919
[Journal Article] Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene2024
- Author(s)
  Borna Nurun Nahar、Kishita Yoshihito、Shimura Masaru、Murayama Kei、Ohtake Akira、Okazaki Yasushi
- Journal Title
  
  Mitochondrion
  
  Volume: 76 Pages: 101858-101858
- DOI
  10.1016/j.mito.2024.101858
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23H00424
[Journal Article] Strategic validation of variants of uncertain significance in ECHS1 genetic testing2023
- Author(s)
  Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R Nitta, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yibo Wu, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: Online ahead of print Issue: 10 Pages: 1006-1015
- DOI
  10.1136/jmg-2022-109027
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K15950, KAKENHI-PROJECT-23K07236, KAKENHI-PROJECT-23K07488, KAKENHI-PROJECT-23H00424
[Journal Article] Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report2023
- Author(s)
  Naganuma Tsukasa、Imasawa Toshiyuki、Nukui Ikuo、Wakasugi Masakiyo、Kitamura Hiroshi、Yatsuka Yukiko、Kishita Yoshihito、Okazaki Yasushi、Murayama Kei、Jinguji Yoshimi
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 35 Pages: 100963-100963
- DOI
  10.1016/j.ymgmr.2023.100963
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23H00424
[Journal Article] ミトコンドリア病の遺伝子診断と病態解析2023
- Author(s)
  杉山洋平, 八塚由紀子, 村山圭, 岡﨑康司
- Journal Title
  
  実験医学増刊
  
  Volume: 41 Pages: 706-712
- Data Source
  KAKENHI-PROJECT-23H00424

1. 岡崎康司 (80280733)

# of Collaborated Projects: 1 results

# of Collaborated Products: 10 results
2. 奥田修二郎 (00512310)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. 木下善仁 (20634398)

# of Collaborated Projects: 1 results

# of Collaborated Products: 5 results
4. 松本浩 (00536229)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 大竹明 (00203810)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
6. 八塚由紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

MURAYAMA KEI 村山 圭

Research Projects

Research Products

Co-Researchers

Establishment of multi-layered omics analysis for mitochondrial disease patients

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis2025

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Deoxyguanosine kinase deficiency: natural history and liver transplant outcome2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY12024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Variants in MICOS10 Identified by Whole Genome Sequencing and <scp>RNA</scp> Sequencing in a New Type of Hepatocerebral Mitochondrial <scp>DNA</scp> Depletion Syndrome2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in ECHS1-related Leigh syndrome2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Strategic validation of variants of uncertain significance in ECHS1 genetic testing2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] ミトコンドリア病の遺伝子診断と病態解析2023

Author(s)

Journal Title

Data Source

MURAYAMA KEI 村山圭